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Apparently non-expressed alleles of factor B (BF) code for hypomorphic proteins
I Siemens1, M Brenden, G Mauff
1Institut für Pathologie der Universität, Heidelberg, Federal Republic of Germany.
Immunogenetics
|January 1, 1992
Summary
Apparently non-expressed Factor B (BF) alleles actually code for hypomorphic, functionally active proteins. Advanced isoelectric focusing revealed these previously undetected BF variants, complementing genetic studies.
Area of Science:
- Immunogenetics
- Complement System Biology
Background:
- Factor B (BF) is a crucial component of the complement system.
- Apparent non-expression of certain BF alleles (BF*Q0) has been observed.
Purpose of the Study:
- To investigate the nature of apparently non-expressed BF*Q0 alleles.
- To characterize the protein products of these alleles using advanced techniques.
Main Methods:
- Isoelectric focusing for BF F subtype determination.
- Restriction fragment length polymorphism analysis (Taq I, Msp I).
- Analysis of BF expression products (Ba and Bb fragments).
Main Results:
- Identified hypomorphic BF products (BF QL) with functional hemolytic activity from presumed BF*Q0 alleles.
- BF*QL alleles showed BF S-like banding patterns for Taq I, Msp I, and Ba fragments.
- An altered Bb fragment was observed in two BF QL products, suggesting intragenic recombination.
Conclusions:
- Apparently non-expressed BF alleles code for hypomorphic but functionally active proteins.
- Protein-level investigations complement molecular genetic studies of BF*Q0 alleles.
- Isoelectric focusing is valuable for characterizing BF variants.